ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2564T>C (p.Leu855Ser)

gnomAD frequency: 0.00001  dbSNP: rs142037771
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847529 SCV002105016 uncertain significance Hereditary spastic paraplegia 2020-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482393 SCV002783218 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002543362 SCV003473739 benign Spastic paraplegia 2023-01-29 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.